title: Von Willebrand disease associated with familial thrombocytopenia and increased ristocetin-induced platelet aggregation.
abstract: Two cases of von Willebrand disease (vWD) associated with familial thrombocytopenia were reported. The proband (daughter) and her father showed thrombocytopenia with large platelets and decreased von Willebrand factor activity (VIIIR:WF). Factor VIII procoagulant activity (VIII:C) and factor VIII-related antigen (VIIIR:AG) were normal, but both patients revealed an increased ristocetin-induced platelet aggregation and a qualitative abnormality of the factor VIII protein, which was characterized by fast electrophoretic mobility of VIIIR:AG and an abnormal elution of factor VIII-related activities on Sepharose 2B. DDAVP was hemostatically effective even in this thrombocytopenic patient undergoing a dental extraction.
mesh_terms: D000328:Adult; D001792:Blood Platelets / Q000502:physiology; D002648:Child; D005169:Factor VIII / Q000378:metabolism; D005260:Female; D006801:Humans; D008297:Male; D010375:Pedigree; D010974:Platelet Aggregation / Q000187:drug effects*; D012310:Ristocetin / Q000494:pharmacology; D013921:Thrombocytopenia / Q000150:complications / Q000235:genetics* / Q000503:physiopathology; D014842:von Willebrand Diseases / Q000150:complications / Q000235:genetics* / Q000503:physiopathology
chemical_list: D012310:Ristocetin; D005169:Factor VIII